Over the last year, the dedicated team at Genomenon have been working tirelessly to understand what users want and need from Mastermind. Today, we are launching the first step toward an enhanced user experience and user interface with the release of Mastermind’s new Gene Information Page.
Mastermind Gene Information Page
We are thrilled to give users a taste of the new interface that will continue to change over the next year. As we continue to work to bring you the best version of Mastermind, you will notice a combination of new and old pages. Your feedback will help drive the development of current and future enhancements coming to Mastermind.
What is the Gene Information Page and how do I get there?
- The Gene Information Page is a central location with crucial information for understanding the gene from various sources such as ClinVar, ClinGen, DECIPHER, and gnomAD
- Any single gene search combined with a disease, phenotype, therapy or category keywords brings you to the gene page
What info is available on the Gene Information Page?
- Curated Gene-Disease Relationships (GDRs)
- Our curation team develops GDRs based on ClinGen guidelines and presents the disease, strength of association, and inheritance pattern for definitive GDRs
- Variant Type and Pathogenicity Breakdown visual for Genomenon and ClinVar variants
- Metrics for total variants in a gene broken down by variant type and pathogenicity
- Gene Summary information
- High level gene information such as description of the gene, canonical transcript, chromosome location, protein shifts, and critical protein domains
- Intrinsic Metrics for Application of ACMG Gene-Wide Criteria
- Information from ClinGen, ClinVar, DECIPHER, and gnomAD that applies to curation based ACMG guidelines
- Haploinsufficiency score from ClinGen and DECIPHER, pLI and LEOUF from gnomAD, and much more
What enhancements were made to current Mastermind features?
- Improved Variant Diagram on the Gene Information Page
- Hover over the amino acid position in the diagram to view the number of variants and most researched variants at that position
- Simply click that amino acid position to view all variants at that position in the table below
- Hover over a protein domain on the x-axis to view the domain name and amino acid position range
- Simply click on that protein domain to view all variants in that domain in the table below
- Improved Variant Table on the Gene Information Page
- Filter by any amino acid position range in the variant table
- Sort by variant position, type, cDNA position, and total articles
- Variants curated by our team will display a Genomenon icon in the table
- Variants with a ClinVar record will display an NIH icon in the table
How do I search the new Gene Information Page?
- View articles for a variant by entering the variant in the search bar or clicking on the article count in the variant table
- The filter categories are located next to the search magnifying glass and represented by the dropdown arrow
- Any search with multiple genes or a CNV will bring you to the classic view of Mastermind
- Any search containing a variant will bring you directly to the articles for that variant
Who has access to the Gene Information Page?
- All users have access to the the Gene Information Page
- Mastermind Basic users have access to some information for all genes and all information for a limited number of genes (try a test gene)
- Mastermind Pro users have unlimited access to all the Genomenon curated evidence, pathogenicity breakdown, and current Pro features like category keywords on the Gene Page
Please feel free to reach out to email@example.com if you have any questions about the recent changes to Mastermind, or if you have any feedback on features or changes that you would like to see in Mastermind!
I will be demonstrating the Gene Information Page and taking questions in a Mastermind Masterclass on November 16 at 11am EST/5pm CET. Register for the Masterclass.
ABOUT THE AUTHOR
Product Manager, Genomenon
As a member of the Customer Success and Mastermind Product Management team, Dan provides support to our Mastermind users. The Customer Success team listens to your feedback and works closely with the development team to release features that augment your Mastermind experience.